β–sarcoglycan: Characterization and role in limb–girdle muscular dystrophy linked to 4q12

Lel E. Lim, Franck Duclos, Odile Broux, Bourg Nathalie, Yoshihide Sunada, Valerie Allamand, Jon Meyer, Isabelle Richard, Carolyn Moomaw, Clive A. Slaughter, Fernando M.S. Tomé, Michel Fardeau, Charles E. Jackson, Jacques S. Beckmann, Kevin P. Campbell

Research output: Contribution to journalArticle

410 Scopus citations

Abstract

β–sarcoglycan, a 43 kDa dystrophin–associated glycoprotein, is an integral component of the dystrophin–glycoprotein complex. We have cloned human β–sarcoglycan cDNA and mapped the β–sarcoglycan gene to chromosome 4q12. Pericentromeric markers and an intragenic polymorphic CA repeat cosegregated perfectly with autosomal recessive limb–girdle muscular dystrophy in several Amish families. A Thr–to–Arg missense mutation was identified within the β–sarcoglycan gene that leads to a dramatically reduced expression of β–sarcoglycan in the sarcolemma and a concomitant loss of adhalin and 35 DAG, which may represent a disruption of a functional subcomplex within the dystrophin–glycoprotein complex. Thus, the β–sarcoglycan gene is the fifth locus identified (LGMD2E) that is involved in autosomal recessive limb–girdle muscular dystrophy.

Original languageEnglish (US)
Pages (from-to)257-265
Number of pages9
JournalNature Genetics
Volume11
Issue number3
DOIs
StatePublished - Nov 1995
Externally publishedYes

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ASJC Scopus subject areas

  • Genetics

Cite this

Lim, L. E., Duclos, F., Broux, O., Nathalie, B., Sunada, Y., Allamand, V., Meyer, J., Richard, I., Moomaw, C., Slaughter, C. A., Tomé, F. M. S., Fardeau, M., Jackson, C. E., Beckmann, J. S., & Campbell, K. P. (1995). β–sarcoglycan: Characterization and role in limb–girdle muscular dystrophy linked to 4q12. Nature Genetics, 11(3), 257-265. https://doi.org/10.1038/ng1195-257